OAZ3 ornithine decarboxylase antizyme 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OAZ3provided by HGNC
Official Full Name: ornithine decarboxylase antizyme 3provided by HGNC
Primary source: HGNC:HGNC:8097
See related: Ensembl:ENSG00000143450 MIM:605138; AllianceGenome:HGNC:8097
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AZ3; OAZ-t; TISP15
Summary: The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 3, the third member of the antizyme family. Like antizymes 1 and 2, antizyme 3 inhibits ODC activity and polyamine uptake; however, it does not stimulate ODC degradation. Also, while antizymes 1 and 2 have broad tissue distribution, expression of antizyme 3 is restricted to haploid germ cells in testis, suggesting a distinct role for this antizyme in spermiogenesis. Antizyme 3 gene knockout studies showed that homozygous mutant male mice were infertile, and indicated the likely role of this antizyme in the formation of a rigid connection between the sperm head and tail during spermatogenesis. Alternatively spliced transcript variants encoding different isoforms, including one resulting from the use of non-AUG (CUG) translation initiation codon, have been found for this gene. [provided by RefSeq, Dec 2014]
Expression: Biased expression in testis (RPKM 63.7) and prostate (RPKM 6.3) See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (151762969..151771330)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (150886358..150894807)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (151735445..151743806)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3.
Mutations in the OAZ3 gene are not a common cause of male infertility.
Title: Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3.
antizyme expression requires programmed, ribosomal frameshifting
Title: Discovery of a spermatogenesis stage-specific ornithine decarboxylase antizyme: antizyme 3.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ornithine decarboxylase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables ornithine decarboxylase inhibitor activity	IDA Inferred from Direct Assay more info
enables ornithine decarboxylase inhibitor activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of polyamine transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in polyamine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatogenesis	TAS Traceable Author Statement more info	PubMed
involved_in viral translational frameshifting	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ornithine decarboxylase antizyme 3

Names: ODC-Az 3; antizyme 3; testicular secretory protein Li 31

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001134939.1 → NP_001128411.1 ornithine decarboxylase antizyme 3 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' terminal exon and initiates translation from an AUG start codon, compared to variant 1. The resulting isoform (2) is shorter with a distinct N-terminus compared to isoform 1.

Source sequence(s)

AF175296, BC073949

Consensus CDS

CCDS58028.1

UniProtKB/TrEMBL

A0A0G2JH29

Related

ENSP00000313922.5, ENST00000321531.10

Conserved Domains (2) summary

pfam02100
Location:87 → 178

ODC_AZ; Ornithine decarboxylase antizyme

cl19115
Location:67 → 94

Cupredoxin; Cupredoxin superfamily
NM_001301371.1 → NP_001288300.1 ornithine decarboxylase antizyme 3 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate 5' terminal exon and initiates translation from an AUG start codon, compared to variant 1. The resulting isoform (3) is shorter with a distinct N-terminus compared to isoform 1.

Source sequence(s)

BC073949, BI830988

Consensus CDS

CCDS76216.1

UniProtKB/TrEMBL

H0Y7Y4

Related

ENSP00000415904.2, ENST00000453029.2

Conserved Domains (2) summary

pfam02100
Location:100 → 191

ODC_AZ; Ornithine decarboxylase antizyme

cl19115
Location:80 → 107

Cupredoxin; Cupredoxin superfamily
NM_016178.2 → NP_057262.2 ornithine decarboxylase antizyme 3 isoform 1

See identical proteins and their annotated locations for NP_057262.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) initiates translation from a non-AUG (CUG) start codon, and encodes the longest isoform (1).

Source sequence(s)

AF175296, BC073949

Consensus CDS

CCDS81378.1

UniProtKB/Swiss-Prot

E7EUE7, Q6GMR0, Q9UMX2

UniProtKB/TrEMBL

A8MW57

Related

ENSP00000383784.3, ENST00000400999.7

Conserved Domains (2) summary

pfam02100
Location:132 → 223

ODC_AZ; Ornithine decarboxylase antizyme

cl19115
Location:112 → 139

Cupredoxin; Cupredoxin superfamily